MitoAction Expert Series

Mar 15 2025 100 ep. 66 mins
MitoAction Expert Series Podcast artwork

Our monthly educational webinars feature guest speakers addressing topics important to the mito community, giving patients and families unprecedented access to leading clinical experts

  Science  Health & Fitness
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Expert Series: Hope on the Horizon: The Vital Role of Patients in Clinical Research

Mar 15 2025 77 mins  
There is unprecedented momentum in the mitochondrial disease clinical trial landscape, and the patient community plays a vital role in ensuring these trials have the potential to lead to new and effective treatments. This expert series aims to demystify clinical trial participation and answer your most pressing questions. Dr. Amy Goldstein, Clinical Director of the Mitochondrial Me

Expert Series: Pyruvate Dehydrogenase Complex Deficiency Essentials: including current trials/research and prospects for newborn screening

Mar 15 2025 76 mins  
Dr. Bedoyan will present the essentials for understanding pyruvate dehydrogenase complex deficiency (PDCD) and detail current clinical trials and therapeutics research for this disorder at UPMC Children’s Hospital of Pittsburgh. He will also describe the elements of newborn screening (NBS) and update the audience of current research and prospects for future PDCD NBS.

Expert Series: Immune Cell Function in Mitochondrial Disease

Mar 15 2025 60 mins  
Immune dysfunction is increasingly appreciated in mitochondrial disorders. Join Dr. Melissa Walker to review the small number of known immune manifestations of specific primary mitochondrial disorders as well as emerging studies on non-specific immune dysfunction in mitochondrial disease more broadly.

Extensive DNA Sequencing in Cyclic Vomiting and Chronic Fatigue: Implication for Genetic Testing and Personalized Treatment Options

Mar 11 2025 92 mins  
In May 2023, Dr. Boles and his research group published a scientific paper on the results of 50 people that had either whole exome or whole genome sequencing. About 30 genes were identified that are highly likely or likely to be risk factors for Cyclic Vomiting Syndrome. The vast majority of these genes involved cation (kat·ai.aan) (positively-charge salts) channels or mitochondri

Expert Series: Rhabdo Roundtable for teens and adults with FAODs.

Mar 11 2025 109 mins  

Expert Series: At the crossroad of mitochondrial disease and mitochondrial dysfunction

Mar 11 2025 63 mins  
Why are patients with Fibromyalgia, Chronic Fatigue, Lymes diagnosed with mitochondrial disease? How do I know I have Mito? What should my doctor look for to consider further testing for Mito? Join Dr. Amel Karaa for a discussion about misdiagnosed mitochondrial disease.

Expert Series: Ceramides: The Unmasked Drivers of VLCADD-Induced Heart Failure

Mar 11 2025 62 mins  
Despite advances in newborn screening and treatment of fatty acid oxidation disorders, patients with very-long-chain acyl-CoA dehydrogenase deficiency (VLCADD) continue to suffer from heart failure. Marie Norris will discuss her preliminary data which suggests that lipotoxicity, largely mediated by the accumulation of ceramides, is a major contributor to VLCADD-induced heart failur

Expert Series: Expanded Access and Compassionate Use of Experimental Therapies

Mar 09 2025 61 mins  
“Expanded Access” and “Compassionate Use” are terms that are utilized in our rare disease community, but what do they mean? How do patients learn about, get involved, better understand the qualifications, and talk with their doctor about participation in either of these programs? Join MitoAction and Dr. Koenig as we dive deep into better understanding the differences and ov

Expert Series: LCHADD Retinopathy Update: Moving Toward a Treatment

Mar 08 2025 84 mins  
Having a better understanding of what things are associated with LCHADD retinopathy can provide insight towards developing treatment. During this presentation, Dr. Gillingham will provide an update on the current results of a natural history study of 40 patients with LCHADD. She will also discuss what factors are associated with retinal structure and function, and how blood biomark

Expert Series: Managing the Highs and Lows of Mitochondrial Disease: a review and updates on diabetes and hypoglycemia

Mar 08 2025 77 mins  
Join Dr. McCormack and Dr. Guzman as they review and discuss the causes of high and low blood sugars in mitochondrial disease, while also providing important updates on mitochondrial diabetes and hypoglycemia management.